{"entity": "publication", "iuid": "4a4f66a926b24489808b929d79fb404d", "timestamp": "2026-09-07T11:23:36.215Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4a4f66a926b24489808b929d79fb404d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4a4f66a926b24489808b929d79fb404d"}}, "title": "Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies.", "authors": [{"family": "Leclair", "given": "Val\u00e9rie", "initials": "V"}, {"family": "Galindo-Feria", "given": "Angeles S", "initials": "AS"}, {"family": "Rothwell", "given": "Simon", "initials": "S"}, {"family": "Kry\u0161t\u016ffkov\u00e1", "given": "Olga", "initials": "O"}, {"family": "Zargar", "given": "Sepehr Sarrafzadeh", "initials": "SS"}, {"family": "Mann", "given": "Herman", "initials": "H"}, {"family": "Diederichsen", "given": "Louise Pyndt", "initials": "LP"}, {"family": "Andersson", "given": "Helena", "initials": "H"}, {"family": "Klein", "given": "Martin", "initials": "M"}, {"family": "Tansley", "given": "Sarah", "initials": "S"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}, {"family": "Wahren-Herlenius", "given": "Marie", "initials": "M"}, {"family": "Sandling", "given": "Johanna K", "initials": "JK"}, {"family": "Dissect Consortium and The Immunoarray Development Consortium", "given": "", "initials": ""}, {"family": "McHugh", "given": "Neil", "initials": "N"}, {"family": "Lamb", "given": "Janine A", "initials": "JA"}, {"family": "Vencovsk\u00fd", "given": "Jiri", "initials": "J"}, {"family": "Chinoy", "given": "Hector", "initials": "H"}, {"family": "Holmqvist", "given": "Marie", "initials": "M"}, {"family": "Bianchi", "given": "Matteo", "initials": "M"}, {"family": "Padyukov", "given": "Leonid", "initials": "L"}, {"family": "Lundberg", "given": "Ingrid E", "initials": "IE"}, {"family": "Diaz-Gallo", "given": "Lina-Marcela", "initials": "LM"}], "type": "journal article", "published": "2023-10-00", "journal": {"title": "EBioMedicine", "issn": "2352-3964", "volume": "96", "pages": "104804", "issn-l": "2352-3964"}, "abstract": "In patients with idiopathic inflammatory myopathies (IIM), autoantibodies are associated with specific clinical phenotypes suggesting a pathogenic role of adaptive immunity. We explored if autoantibody profiles are associated with specific HLA genetic variants and clinical manifestations in IIM.\n\nWe included 1348 IIM patients and determined the occurrence of 14 myositis-specific or -associated autoantibodies. We used unsupervised cluster analysis to identify autoantibody-defined subgroups and logistic regression to estimate associations with clinical manifestations, HLA-DRB1, HLA-DQA1, HLA-DQB1 alleles, and amino acids imputed from genetic information of HLA class II and I molecules.\n\nWe identified eight subgroups with the following dominant autoantibodies: anti-Ro52, -U1RNP, -PM/Scl, -Mi2, -Jo1, -Jo1/Ro52, -TIF1\u03b3 or negative for all analysed autoantibodies. Associations with HLA-DRB1\u221711, HLA-DRB1\u221715, HLA-DQA1\u221703, and HLA-DQB1\u221703 were present in the anti-U1RNP-dominated subgroup. HLA-DRB1\u221703, HLA-DQA1\u221705, and HLA-DQB1\u221702 alleles were overrepresented in the anti-PM/Scl and anti-Jo1/Ro52-dominated subgroups. HLA-DRB1\u221716, HLA-DRB1\u221707 alleles were most frequent in anti-Mi2 and HLA-DRB1\u221701 and HLA-DRB1\u221707 alleles in the anti-TIF1\u03b3 subgroup. The HLA-DRB1\u221713, HLA-DQA1\u221701 and HLA-DQB1\u221706 alleles were overrepresented in the negative subgroup. Significant signals from variations in class I molecules were detected in the subgroups dominated by anti-Mi2, anti-Jo1/Ro52, anti-TIF1\u03b3, and the negative subgroup.\n\nDistinct HLA class II and I associations were observed for almost all autoantibody-defined subgroups. The associations support autoantibody profiles use for classifying IIM which would likely reflect underlying pathogenic mechanisms better than classifications based on clinical symptoms and/or histopathological features.\n\nSee a detailed list of funding bodies in the Acknowledgements section at the end of the manuscript.", "doi": "10.1016/j.ebiom.2023.104804", "pmid": "37769433", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10550566"}, {"db": "pii", "key": "S2352-3964(23)00370-5"}], "notes": [], "created": "2026-08-20T07:54:07.526Z", "modified": "2026-08-20T07:54:07.577Z"}